Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization
FLII基因的双等位基因变异会破坏心肌细胞黏附和肌原纤维组织,从而导致儿童心肌病。
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.168247
Ruijmbeek, Claudine Wb; Housley, Filomena; Idrees, Hafiza; Housley, Michael P; Pestel, Jenny; Keller, Leonie; Lai, Jason Kh; der Linde, Herma C van; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N; Almesned, Abdulrahman; Dalinghaus, Michiel; den Bersselaar, Lisa M van; van Slegtenhorst, Marjon A; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J; Stainier, Didier Yr; Verhagen, Judith Ma; Reischauer, Sven
FLII
心肌病
心血管
Adhesion/ECM
细胞生物学